Details for: NF2

Gene ID: 4771

Symbol: NF2

Ensembl ID: ENSG00000186575

Description: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 154.5531
    Cell Significance Index: -24.0400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 98.5636
    Cell Significance Index: -25.0000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 56.5955
    Cell Significance Index: -26.7200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 54.7929
    Cell Significance Index: -22.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 48.8933
    Cell Significance Index: -25.1500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.3885
    Cell Significance Index: -22.3300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.5012
    Cell Significance Index: -26.5100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.4704
    Cell Significance Index: -25.3700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.7891
    Cell Significance Index: -26.7900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.5835
    Cell Significance Index: -12.2200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 3.2072
    Cell Significance Index: 52.8500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2313
    Cell Significance Index: 16.8000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1649
    Cell Significance Index: 1051.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0833
    Cell Significance Index: 217.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8196
    Cell Significance Index: 162.6600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6929
    Cell Significance Index: 479.2100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6852
    Cell Significance Index: 111.4500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6169
    Cell Significance Index: 71.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6169
    Cell Significance Index: 221.2600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5118
    Cell Significance Index: 50.6300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4688
    Cell Significance Index: 13.1000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4235
    Cell Significance Index: 32.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4143
    Cell Significance Index: 11.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3464
    Cell Significance Index: 62.4500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3348
    Cell Significance Index: 8.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3087
    Cell Significance Index: 17.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3059
    Cell Significance Index: 13.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2944
    Cell Significance Index: 36.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2793
    Cell Significance Index: 7.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2726
    Cell Significance Index: 148.8500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2519
    Cell Significance Index: 9.5400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2497
    Cell Significance Index: 47.5200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2360
    Cell Significance Index: 5.0500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2336
    Cell Significance Index: 6.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2145
    Cell Significance Index: 14.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1606
    Cell Significance Index: 22.0600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1598
    Cell Significance Index: 3.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1521
    Cell Significance Index: 7.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1505
    Cell Significance Index: 3.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1285
    Cell Significance Index: 56.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1111
    Cell Significance Index: 5.2200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0801
    Cell Significance Index: 10.3500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0706
    Cell Significance Index: 1.2100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0527
    Cell Significance Index: 2.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0471
    Cell Significance Index: 3.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0376
    Cell Significance Index: 70.8500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0362
    Cell Significance Index: 1.8800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0258
    Cell Significance Index: 3.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0225
    Cell Significance Index: 1.3800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0202
    Cell Significance Index: 31.1600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0144
    Cell Significance Index: 0.9100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0109
    Cell Significance Index: 20.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0093
    Cell Significance Index: 4.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0084
    Cell Significance Index: 5.3400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0048
    Cell Significance Index: 0.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0047
    Cell Significance Index: -6.3900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0139
    Cell Significance Index: -10.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0161
    Cell Significance Index: -2.7500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0173
    Cell Significance Index: -0.9000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0184
    Cell Significance Index: -1.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0223
    Cell Significance Index: -16.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0256
    Cell Significance Index: -18.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0301
    Cell Significance Index: -4.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0305
    Cell Significance Index: -1.9700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0431
    Cell Significance Index: -24.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0471
    Cell Significance Index: -5.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0480
    Cell Significance Index: -2.5200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0490
    Cell Significance Index: -30.5900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0793
    Cell Significance Index: -22.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0801
    Cell Significance Index: -2.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0826
    Cell Significance Index: -8.4400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1035
    Cell Significance Index: -2.0200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1112
    Cell Significance Index: -2.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1131
    Cell Significance Index: -12.9600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1175
    Cell Significance Index: -3.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1193
    Cell Significance Index: -8.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1383
    Cell Significance Index: -29.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1983
    Cell Significance Index: -6.3500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2113
    Cell Significance Index: -4.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2259
    Cell Significance Index: -3.7800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2360
    Cell Significance Index: -24.5700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2596
    Cell Significance Index: -20.5600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3041
    Cell Significance Index: -4.4900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3342
    Cell Significance Index: -20.4900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3427
    Cell Significance Index: -8.2200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3553
    Cell Significance Index: -7.5400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3677
    Cell Significance Index: -10.5400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3741
    Cell Significance Index: -4.6400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3742
    Cell Significance Index: -10.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4127
    Cell Significance Index: -14.3400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4228
    Cell Significance Index: -5.0400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4371
    Cell Significance Index: -6.2600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4496
    Cell Significance Index: -4.1400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4681
    Cell Significance Index: -14.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4746
    Cell Significance Index: -15.5400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4770
    Cell Significance Index: -10.3100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5387
    Cell Significance Index: -18.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5836
    Cell Significance Index: -11.5400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5853
    Cell Significance Index: -11.7500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5883
    Cell Significance Index: -15.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The NF2 gene is a tumor suppressor gene that is characterized by its ability to regulate various cellular processes, including: 1. **Actin cytoskeleton organization**: The Merlin protein interacts with the actin cytoskeleton to regulate cell shape, movement, and division. 2. **Cell-cell adhesion**: NF2 regulates the formation and maintenance of adherens junctions, which are critical for maintaining tissue architecture and preventing tumor formation. 3. **Signal transduction**: The Merlin protein modulates signaling pathways involved in cell growth, differentiation, and survival, including the MAPK cascade and the PI3K/AKT pathway. 4. **Cytoskeleton dynamics**: NF2 regulates the assembly and disassembly of actin filaments, which is essential for cell migration, invasion, and the formation of tumors. **Pathways and Functions** The NF2 gene is involved in several signaling pathways and cellular processes, including: 1. **MAPK cascade**: The Merlin protein regulates the activity of the MAPK cascade, which is involved in cell growth, differentiation, and survival. 2. **PI3K/AKT pathway**: NF2 modulates the PI3K/AKT pathway, which is critical for cell survival, proliferation, and migration. 3. **Rho GTPase signaling**: The Merlin protein interacts with Rho GTPases to regulate cell migration, invasion, and the formation of tumors. 4. **Apoptosis**: NF2 regulates the apoptotic process, which is essential for eliminating damaged or malignant cells. **Clinical Significance** Mutations in the NF2 gene have been associated with several human cancers, including: 1. **Schwannomas**: NF2 is a major tumor suppressor gene for schwannomas, which are benign tumors of the nerve sheath. 2. **Meningiomas**: NF2 mutations are also associated with meningiomas, which are benign tumors of the meninges. 3. **Ependymomas**: NF2 mutations have been identified in ependymomas, which are malignant tumors of the central nervous system. 4. **Neurofibromas**: NF2 is also associated with neurofibromas, which are benign tumors of the nerve sheath. In conclusion, the NF2 gene plays a critical role in regulating cellular processes, including cell structure, adhesion, and signaling pathways. Mutations in this gene have been associated with several human cancers, highlighting the importance of NF2 in tumor suppression and the development of targeted therapies for cancer treatment.

Genular Protein ID: 2106077742

Symbol: MERL_HUMAN

Name: Merlin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8453669

Title: A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

PubMed ID: 8453669

DOI: 10.1016/0092-8674(93)90406-g

PubMed ID: 8379998

Title: Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.

PubMed ID: 8379998

DOI: 10.1038/363515a0

PubMed ID: 9817927

Title: NF2 gene in neurofibromatosis type 2 patients.

PubMed ID: 9817927

DOI: 10.1093/hmg/7.13.2095

PubMed ID: 10401006

Title: Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules.

PubMed ID: 10401006

DOI: 10.1093/hmg/8.8.1561

PubMed ID: 11827459

Title: Multiple transcription initiation sites, alternative splicing, and differential polyadenylation contribute to the complexity of human neurofibromatosis 2 transcripts.

PubMed ID: 11827459

DOI: 10.1006/geno.2001.6672

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9430655

Title: NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.

PubMed ID: 9430655

DOI: 10.1074/jbc.273.3.1273

PubMed ID: 10861283

Title: The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate.

PubMed ID: 10861283

DOI: 10.1093/hmg/9.11.1567

PubMed ID: 10669747

Title: Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.

PubMed ID: 10669747

DOI: 10.1128/mcb.20.5.1699-1712.2000

PubMed ID: 12136076

Title: Neurofibromatosis 2 and malignant mesothelioma.

PubMed ID: 12136076

DOI: 10.1212/wnl.59.2.290

PubMed ID: 15541357

Title: MAP, a protein interacting with a tumor suppressor, merlin, through the run domain.

PubMed ID: 15541357

DOI: 10.1016/j.bbrc.2004.10.095

PubMed ID: 15598747

Title: Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L.

PubMed ID: 15598747

DOI: 10.1073/pnas.0405971102

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18332868

Title: VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation.

PubMed ID: 18332868

DOI: 10.1038/onc.2008.44

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19144871

Title: Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin.

PubMed ID: 19144871

DOI: 10.3181/0809-rm-275

PubMed ID: 20178741

Title: Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

PubMed ID: 20178741

DOI: 10.1016/j.cell.2010.01.029

PubMed ID: 20159598

Title: Kibra functions as a tumor suppressor protein that regulates Hippo signaling in conjunction with Merlin and Expanded.

PubMed ID: 20159598

DOI: 10.1016/j.devcel.2009.12.012

PubMed ID: 20159599

Title: Kibra Is a regulator of the Salvador/Warts/Hippo signaling network.

PubMed ID: 20159599

DOI: 10.1016/j.devcel.2009.12.011

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21167305

Title: Moesin-ezrin-radixin-like protein (merlin) mediates protein interacting with the carboxyl terminus-1 (PICT-1)-induced growth inhibition of glioblastoma cells in the nucleus.

PubMed ID: 21167305

DOI: 10.1016/j.biocel.2010.12.011

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 11856822

Title: The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product.

PubMed ID: 11856822

DOI: 10.1107/s0907444901021175

PubMed ID: 8230593

Title: DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.

PubMed ID: 8230593

DOI: 10.1001/jama.270.19.2316

PubMed ID: 7913580

Title: Mutational analysis of patients with neurofibromatosis 2.

PubMed ID: 7913580

PubMed ID: 8004107

Title: Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.

PubMed ID: 8004107

DOI: 10.1093/hmg/3.2.347

PubMed ID: 8012353

Title: Exon scanning for mutation of the NF2 gene in schwannomas.

PubMed ID: 8012353

DOI: 10.1093/hmg/3.3.413

PubMed ID: 8081368

Title: Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

PubMed ID: 8081368

DOI: 10.1093/hmg/3.5.813

PubMed ID: 7951231

Title: Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

PubMed ID: 7951231

DOI: 10.1093/hmg/3.6.885

PubMed ID: 8162073

Title: Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.

PubMed ID: 8162073

DOI: 10.1038/ng0294-185

PubMed ID: 7759081

Title: Eleven novel mutations in the NF2 tumour suppressor gene.

PubMed ID: 7759081

DOI: 10.1007/bf00223872

PubMed ID: 7666400

Title: Diagnostic issues in a family with late onset type 2 neurofibromatosis.

PubMed ID: 7666400

DOI: 10.1136/jmg.32.6.470

PubMed ID: 8566958

Title: A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

PubMed ID: 8566958

DOI: 10.1007/bf02265270

PubMed ID: 8655144

Title: Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.

PubMed ID: 8655144

DOI: 10.1007/bf02281874

PubMed ID: 8698340

Title: Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.

PubMed ID: 8698340

DOI: 10.1007/s004390050188

PubMed ID: 9643284

Title: Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

PubMed ID: 9643284

DOI: 10.1136/jmg.35.6.450

PubMed ID: 10090912

Title: Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.

PubMed ID: 10090912

DOI: 10.1086/302338

PubMed ID: 10790209

Title: Detection of novel NF2 mutations by an RNA mismatch cleavage method.

PubMed ID: 10790209

DOI: 10.1002/(sici)1098-1004(200005)15:5<474::aid-humu9>3.0.co;2-7

PubMed ID: 12709270

Title: Preimplantation diagnosis for neurofibromatosis.

PubMed ID: 12709270

DOI: 10.1016/s1472-6483(10)61809-3

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 20445339

Title: Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

PubMed ID: 20445339

DOI: 10.3343/kjlm.2010.30.2.190

Sequence Information:

  • Length: 595
  • Mass: 69690
  • Checksum: B1A1BF2BD5DA561C
  • Sequence:
  • MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 
    FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 
    QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 
    PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 
    LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC 
    IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE RTRDELERRL 
    LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ KAAEAEQEMQ RIKATAIRTE 
    EEKRLMEQKV LEAEVLALKM AEESERRAKE ADQLKQDLQE AREAERRAKQ KLLEIATKPT 
    YPPMNPIPAP LPPDIPSFNL IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN 
    ELKTEIEALK LKERETALDI LHNENSDRGG SSKHNTIKKL TLQSAKSRVA FFEEL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.